A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6335018



Internal ID20868208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234606801..234611100hg38UCSC Ensembl
chr1:234742547..234746846hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058814
Samples
Known GenesIRF2BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6335018
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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